Lack of association between polymorphism of the human cyclic GMP-dependent protein kinase gene and obesity

Zakharkin, Stanislav O.; Belay, Amsale T.; Fernández, José R.; Luca, Vincenzo De; Kennedy, James L.; Sokolowski, Marla B.; Allison, David B.

doi:10.1038/sj.ijo.0802973

Cited by 7 publications

(3 citation statements)

References 20 publications

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“…Function of FAM86D is still unknown. We confirmed intronic gain at PRKG1 in one EC, which is involved in fatty acid metabolism [33]. We found loss at ANKS1B , while overexpression of ANKS1B is reported in pre-B cell acute lymphocytic leukaemia [34].…”

Section: Discussionsupporting

confidence: 74%

Genome-wide analysis of Ollier disease: Is it all in the genes?

Pansuriya

Oosting

Krenács

et al. 2011

Orphanet J Rare Dis

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BackgroundOllier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetric distribution. The risk of malignant transformation towards central chondrosarcoma (CS) is increased up to 35%. The aetiology of Ollier disease is unknown.MethodsWe undertook genome-wide copy number and loss of heterozygosity (LOH) analysis using Affymetrix SNP 6.0 array on 37 tumours of 28 Ollier patients in combination with expression array using Illumina BeadArray v3.0 for 7 ECs of 6 patients.ResultsNon-recurrent EC specific copy number alterations were found at FAM86D, PRKG1 and ANKS1B. LOH with copy number loss of chromosome 6 was found in two ECs from two unrelated Ollier patients. One of these patients also had LOH at chromosome 3. However, no common genomic alterations were found for all ECs. Using an integration approach of SNP and expression array we identified loss as well as down regulation of POU5F1 and gain as well as up regulation of NIPBL. None of these candidate regions were affected in more than two Ollier patients suggesting these changes to be random secondary events in EC development. An increased number of genetic alterations and LOH were found in Ollier CS which mainly involves chromosomes 9p, 6q, 5q and 3p.ConclusionsWe present the first genome-wide analysis of the largest international series of Ollier ECs and CS reported so far and demonstrate that copy number alterations and LOH are rare and non-recurrent in Ollier ECs while secondary CS are genetically unstable. One could predict that instead small deletions, point mutations or epigenetic mechanisms play a role in the origin of ECs of Ollier disease.

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Section: Discussionsupporting

confidence: 74%

Genome-wide analysis of Ollier disease: Is it all in the genes?

Pansuriya

Oosting

Krenács

et al. 2011

Orphanet J Rare Dis

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“…For example, high expression of cGK1 has been associated with obesity, and a reduction of PKG has been associated with diabetes and high glucose concentrations (Wang et al, 2002;Wang et al, 2003;Wang et al, 2004;Engeli et al, 2004;Su et al, 2003;Zanetti et al, 2005;Chang et al, 2004). Although a polymorphism in cGKI has not yet been found between obese and healthy mass populations (Zakharkin et al, 2005), the evidence from D. melanogaster larvae suggests that cGKI may help sustain a healthy mass by maintaining a balance between energy input and output. Future research will help resolve whether a natural polymorphism in for also contributes to individual differences in energy balance in humans and across diverse taxa.…”

Section: Discussionmentioning

confidence: 97%

Natural variation in food acquisition mediatedviaaDrosophilacGMP-dependent protein kinase

Kaun

Riedl

Chakaborty-Chatterjee

et al. 2007

Journal of Experimental Biology

114

138

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SUMMARY In natural environments where food abundance and quality can change drastically over time, animals must continuously alter their food acquisition strategies. Although genetic variation contributes to this plasticity, the specific genes involved and their interactions with the environment are poorly understood. Here we report that natural variation in the Drosophilagene, foraging (for), which encodes a cGMP-dependent protein kinase (PKG), affects larval food acquisition in an environmentally dependent fashion. When food is plentiful, the wild-type rover(forR) allele confers lower food intake and higher glucose absorption than both the wild-type sitter (fors) allele and the mutant fors2 allele. When food is scarce, forR, fors and fors2 larvae increase food intake to a common maximal level, but forRlarvae retain their increased absorption efficiency. Changes in forexpression can induce corrective behavioral modifications in response to food deprivation. When reared in environments with low food levels, forR larvae have higher survivorship and faster development than fors and fors2larvae. Together, these results show that natural variation in forhas far reaching implications affecting a suite of phenotypes involved in the regulation of food acquisition.

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“…prkg1 is homologous to D. mela-nogaster for. Although a polymorphism in prkg1 has not yet been found between obese and healthy-weight human populations (Zakharkin et al 2005), some evidence suggests a link between cGK1 and obesity. prkg1 is expressed at higher levels in adipocytes of obese women (Engeli et al 2004).…”

Section: Pkg and Energy Homeostasis In Mammalsmentioning

confidence: 99%

cGMP-dependent protein kinase: linking foraging to energy homeostasis

Kaun

Sokolowski

2009

Genome

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Successful foraging is necessary for procurement of nutritional resources essential for an animal's survival. Maintenance of foraging and food acquisition is dependent on the ability to balance food intake and energy expenditure. This review examines the role of cGMP-dependent protein kinase (PKG) as a regulator of foraging behaviour, food acquisition, and energy balance. The role of PKG in food-related behaviours is highly conserved among worms, flies, bees, ants, and mammals. A growing body of literature suggests that PKG plays an integral role in the component behaviours and physiologies underlying foraging behaviour. These include energy acquisition, nutrient absorption, nutrient allocation, nutrient storage, and energy use. New evidence suggests that PKG mediates both neural and physiological mechanisms underlying these processes. This review illustrates how investigating the role of PKG in energy homeostasis in a diversity of organisms can offer a broad perspective on the mechanisms mediating energy balance.

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Lack of association between polymorphism of the human cyclic GMP-dependent protein kinase gene and obesity

Cited by 7 publications

References 20 publications

Genome-wide analysis of Ollier disease: Is it all in the genes?

Genome-wide analysis of Ollier disease: Is it all in the genes?

Natural variation in food acquisition mediatedviaaDrosophilacGMP-dependent protein kinase

cGMP-dependent protein kinase: linking foraging to energy homeostasis

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